Search results for "chromosome"

Report 1751. Isoetes todaroana Troia & Raimondo. In: Kamari, G., Blanché, C. & Siljak-Yakovlev, S. (eds): Mediterranean chromosome number reports

2011

Differential function of the phosphoglucomutase isozymes PGM1 and PGM2

1979

A total of 13 metabolites thought to be possibly inhibitory were tested for their influence on PGM isozyme activities, each at several different concentrations. The analysis of statistical significance was based on enzyme activities obtained by densitometric measurements of starch gels. Five of the substances were found to inhibit PGM activity, three of which definitely and a further one probably led to a significantly stronger inhibition of the isozymes of the PGM2 locus than of PGM1 isozymes. They are (1) fructose-1,6-diphosphate, (2) adenosine triphosphate, (3) citrate, and (4) possibly 2,3-diphosphoglycerate. Thus, PGM1 isozymes proved to function better in hard or perhaps marginal meta…

A fast algorithm for the exhaustive analysis of 12-nucleotide-long DNA sequences. Applications to human genomics

2004

We have developed a new algorithm that allows the exhaustive determination of words of up to 12 nucleotides in DNA sequences. It is fast enough as to be used at a genomic scale running on a standard personal computer. As an example, we apply the algorithm to compare the number of all 12-nucleotide long words in human chromosomes 21 and 22, each of them more than 33 million nucleotides long. Sequences that are chromosome specific are detected in less than 2 minutes, being analyzed any pair of chromosomes at a rate of 45 millions of nucleotides (45 Mb) per minute. The size of the words is long enough as to allow further analyses of all significant sequences using conventional database searche…

Rare chromosomal abnormalities: a mosaic of four cellular lines with two rings involving the chromosomes X and 21. First report in a male newborn pat…

2005

Evolutionary site-number changes of ribosomal DNA loci during speciation: complex scenarios of ancestral and more recent polyploid events.

2015

Genes encoding ribosomal RNA are universal key constituents of eukaryotic genomes, but the number of loci varies between species. We assessed the evolutionary trends in site-number changes of rDNA loci during speciation in a lineage of the cabbage family, characterized by complex scenarios of polyploidy. Our results suggest the existence of constrictions to burst loci amplification in the 5S rDNA family in polyploids and an overall trend to further reduce their number. The 45S rDNA site change in polyploids tells a different story, implying loci amplification in most of the polyploid entities.

Reports (1815-1816), in: Kamari G, Blanché C, Silijak-Yakovlev S (eds.) Mediterranean chromosome number reports - 23.

2013

Filogeneomica comparata tra Primati e Scandentia: il mappaggio delle sonde cromosomiche umane su Tupaia minor (Scandentia)

2011

A girl with inverted triplication of chromosome 3q25.3 → q29 and multiple congenital anomalies consistent with 3q duplication syndrome

2005

We report a newborn girl with intrachromosomal triplication of 3q25.3 --> q29 (mosaicism) who died at the age of 3.5 weeks due to her malformations. She demonstrated disproportionate short stature with short limbs, a prominent and hairy forehead, thick eyebrows, synophrys, small upturned nose, full cheeks, micrognathia, and low set malformed and posteriorly rotated ears, short and webbed neck, hydrocephalus, Dandy-Walker malformation, spina bifida, complex heart defect (ventricular and atrial septal defect, malrotation, and interrupted aortic arch), omphalocele, polycystic kidneys, postaxial polydactyly of left hand, and generalized hirsutism; all signs have been associated with the dup(3q)…

Langer-Giedion syndrome with interstitial 8q-deletion.

1982

We describe a 12-year-old girl with Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II) who also had vertebral malformations. Chromosome analysis identified an interstitial del(8q): 46,XX,del(8)(pter leads to q22::q234 leads to qter) as a cause of this syndrome.

12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.

2022

Interstitial deletions of the long arm of chromosome 12 are rare, with a dozen patients carrying a deletion in 12q21 being reported. Recently a critical region (CR) has been delimited and could be responsible for the more commonly described clinical features, such as developmental delay/intellectual disability, congenital genitourinary and brain malformations. Other, less frequent, clinical signs do not seem to be correlated to the proposed CR. We present seven new patients harboring non-recurrent deletions ranging from 1 to 18.5 Mb differentially scattered across 12q21. Alongside more common clinical signs, some patients have rarer features such as heart defects, hearing loss, hypotonia an…